A de novo nonsense mutation of STXBP1 causes early-onset epileptic encephalopathy

Stxbp1/Munc18-1 haploinsufficiency impairs inhibition and mediates key neurological features of STXBP1 encephalopathy

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STXBP1 encephalopathies: Clinical spectrum, disease mechanisms, and therapeutic strategies

(2020) Debra Abramov et al.   JOURNAL OF NEUROCHEMISTRY

De novo STXBP1 mutation in a child with developmental delay and spasticity reveals a major structural alteration in the interface with syntaxin 1A

(2020) Ehud Banne et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

The GABRG2 F343L allele causes spontaneous seizures in a novel transgenic zebrafish model that can be treated with suberanilohydroxamic acid (SAHA)

(2020) Dingding Shen et al.   Annals of Translational Medicine

Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish

(2019) Aleksandra Siekierska et al.   Nature Communications

Impaired cortico-striatal excitatory transmission triggers epilepsy

(2019) Hiroyuki Miyamoto et al.   Nature Communications

Expression analysis of the aquaporins during zebrafish embryonic development

(2019) Yinyin Qin et al.   GENE EXPRESSION PATTERNS

Homozygous STXBP1 variant causes encephalopathy and gain-of-function in synaptic transmission

(2019) Hanna C A Lammertse et al.   BRAIN

Susceptibility of larval zebrafish to the seizurogenic activity of GABA type A receptor antagonists

(2019) Suren B. Bandara et al.   NEUROTOXICOLOGY

Protein instability, haploinsufficiency, and cortical hyper-excitability underlie STXBP1 encephalopathy

(2018) Jovana Kovačević et al.   BRAIN

The developing utility of zebrafish models of neurological and neuropsychiatric disorders: A critical review

(2018) Barbara D. Fontana et al.   EXPERIMENTAL NEUROLOGY

The expression of natriuretic peptide receptors in developing zebrafish embryos

(2018) Jie Gong et al.   GENE EXPRESSION PATTERNS

De novo mutations of STXBP1 in Chinese children with early onset epileptic encephalopathy

(2018) Tingsong Li et al.   GENES BRAIN AND BEHAVIOR

Therapeutic benefits of ACTH and levetiracetam in STXBP1 encephalopathy with a de novo mutation

(2018) Shunli Liu et al.   MEDICINE

Zebrafish Models of Neurodevelopmental Disorders: Past, Present, and Future

(2018) Catalina Sakai et al.   Frontiers in Molecular Neuroscience

Defects at the crossroads of GABAergic signaling in generalized genetic epilepsies

(2017) Jing-Qiong Kang   EPILEPSY RESEARCH

Potentiation of excitatory synaptic transmission ameliorates aggression in mice with Stxbp1 haploinsufficiency

(2017) Hiroyuki Miyamoto et al.   HUMAN MOLECULAR GENETICS

The Multifaceted Role of SNARE Proteins in Membrane Fusion

(2017) Jing Han et al.   Frontiers in Physiology

MUNC18–1 gene abnormalities are involved in neurodevelopmental disorders through defective cortical architecture during brain development

(2017) Nanako Hamada et al.   Acta Neuropathologica Communications

Dramatic effect of levetiracetam in early-onset epileptic encephalopathy due to STXBP1 mutation

(2016) Robertino Dilena et al.   BRAIN & DEVELOPMENT

STXBP1encephalopathy

(2016) Hannah Stamberger et al.   NEUROLOGY

Molecular Pathogenic Basis forGABRG2Mutations Associated With a Spectrum of Epilepsy Syndromes, From Generalized Absence Epilepsy to Dravet Syndrome

(2016) Jing-Qiong Kang et al.   JAMA Neurology

Epilepsy, Behavioral Abnormalities, and Physiological Comorbidities in Syntaxin-Binding Protein 1 (STXBP1) Mutant Zebrafish

(2016) Brian P. Grone et al.   PLoS One

The Synaptic Vesicle Release Machinery

(2015) Josep Rizo et al.   Annual Review of Biophysics

GABRA1 and STXBP1: Novel genetic causes of Dravet syndrome

(2014) G. L. Carvill et al.   NEUROLOGY

Gal80 intersectional regulation of cell-type specific expression in vertebrates

(2011) Esther Fujimoto et al.   DEVELOPMENTAL DYNAMICS

Zebrafish as a model for studying genetic aspects of epilepsy

(2010) G. A. Hortopan et al.   Disease Models & Mechanisms

STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern

(2010) Hirotomo Saitsu et al.   EPILEPSIA

Revised terminology and concepts for organization of seizures and epilepsies: Report of the ILAE Commission on Classification and Terminology, 2005-2009

(2010) Anne T. Berg et al.   EPILEPSIA

De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy

(2008) Hirotomo Saitsu et al.   NATURE GENETICS

High-resolution in situ hybridization to whole-mount zebrafish embryos

(2007) Christine Thisse et al.   Nature Protocols